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- W2139228013 abstract "We describe a case of a 45-year-old woman with progressive chronic kidney disease (CKD), macrocytic anaemia without fragments or thrombocytopaenia, and thrombotic microangiopathy on renal biopsy. ‘A disintegrin and metalloprotease, with thrombospondin-1-like domains’ (ADAMTS-13) deficiency was detected, and genotyping revealed single-nucleotide polymorphisms known to be associated with reduced ADAMTS-13 secretion and activity. Congenital thrombotic thrombocytopaenic purpura was diagnosed with unusual features of late presentation and absent neurological involvement. ADAMTS-13 deficiency should be considered a cause of CKD when features of thrombotic microangiopathy are present on renal biopsy." @default.
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- W2139228013 date "2010-10-14" @default.
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- W2139228013 title "ADAMTS-13 deficiency: can it cause chronic renal failure?" @default.
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- W2139228013 doi "https://doi.org/10.1093/ndt/gfq644" @default.
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